Search results for "hernia"

The MalaCard for "hernia" has been retired.
Searching MalaCards for entries containing "hernia"

1320 hits were found for 'hernia'

# Family MCID Name MIFTS Score
1
P CNG015 Congenital Diaphragmatic Hernia 58 6.844
2
HTS001 Hiatus Hernia 38 4.497
3
ING001 Inguinal Hernia 44 4.039
4
DNN002 Donnai-Barrow Syndrome 39 3.722
5
c DPH016 Diaphragmatic Hernia 3 13 3.722
6
UMB002 Umbilical Hernia 35 3.596
7
GLL032 Galloway-Mowat Syndrome 44 3.320
8
ACR089 Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 7 3.295
9
ABD010 Abdominal Wall Defect 26 2.982
10
FRY002 Fryns Syndrome 37 2.944
11
P SHR029 Short Syndrome 49 2.930
12
ENT001 Enterocele 34 2.406
13
SHP002 Shprintzen-Goldberg Syndrome 52 2.383
14
MCR090 Microspherophakia with Hernia 4 2.348
15
DND012 Dandy-Walker Malformation with Nasopharyngeal Teratoma and Diaphragmatic Hernia 3 2.348
16
LMB010 Lambert Syndrome 32 2.339
17
c MCR212 Microphthalmia, Syndromic 12 23 2.330
18
GRS006 Gershoni-Baruch Syndrome 4 2.319
19
P PRS049 Persistent Mullerian Duct Syndrome 46 1.718
20
DPH011 Diaphragmatic Hernia Upper Limb Defects 1 1.689
21
c PRS068 Persistent Mullerian Duct Syndrome, Type Ii 34 1.671
22
DPH010 Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis 4 1.671
23
ART051 Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 2 1.671
24
HYD024 Hydrocephaly Corpus Callosum Agenesis Diaphragmatic Hernia 1 1.671
25
PGD001 Pagod Syndrome 22 1.660
26
GST056 Gastrocutaneous Syndrome 13 1.660
27
DSP001 Displacement of Cardia Through Esophageal Hiatus 7 1.660
28
HRN002 Hernia of Ovary and Fallopian Tube 5 1.660
29
c DH1001 Dih1-Related Congenital Diaphragmatic Hernia 5 1.660
30
MRF012 Marfanoid Habitus - Inguinal Hernia - Advanced Bone Age 4 1.660
31
SPG003 Spigelian Hernia-Cryptorchidism Syndrome 3 1.660
32
MGR005 Megarbane Syndrome 4 1.631
33
SLB001 Saal Bulas Syndrome 3 1.631
34
P ESP024 Esophagitis 51 0.232
35
P CHR345 Chronic Pain 39 0.190
36
P INT070 Intestinal Obstruction 45 0.165
37
HYD005 Hydrocele 40 0.154
38
c PND001 Pain Disorder 43 0.138
39
GST092 Gastroesophageal Reflux 58 0.126
40
DPH021 Diaphragm Disease 33 0.116
41
P PLM037 Pulmonary Hypertension 78 0.114
42
CRY002 Cryptorchidism 52 0.099
43
OMP004 Omphalocele 46 0.099
44
MCK002 Meckel's Diverticulum 35 0.099
45
ANR040 Aneurysm 43 0.097
46
P EHL033 Ehlers-Danlos Syndrome, Classic Type 60 0.095
47
PPT001 Peptic Esophagitis 37 0.095
48
PRT036 Peritonitis 58 0.088
49
APP008 Appendicitis 52 0.088
50
DDN006 Duodenitis 40 0.086
51
ART016 Aortic Aneurysm 55 0.083
52
P OBS005 Obesity 89 0.081
53
P INF032 Infertility 52 0.081
54
P ABD003 Abdominal Aortic Aneurysm 50 0.081
55
ESP020 Esophageal Atresia 46 0.081
56
GST050 Gastrointestinal System Disease 43 0.078
57
AND015 Androgen Insensitivity 65 0.075
58
P HPT021 Hepatitis 58 0.073
59
FCL009 Focal Dermal Hypoplasia 58 0.073
60
GST009 Gastroschisis 43 0.073
61
PNM008 Pneumothorax 41 0.073
62
CHL004 Cholelithiasis 40 0.073
63
CRD001 Cardiac Tamponade 39 0.073
64
ART001 Arterial Tortuosity Syndrome 59 0.070
65
PSD007 Pseudomyxoma Peritonei 46 0.070
66
CTS003 Coats Disease 44 0.070
67
P TRT010 Teratoma 40 0.070
68
BCK006 Back Pain 32 0.070
69
STM006 Stomach Disease 36 0.067
70
BLD045 Bladder Diverticulum 33 0.067
71
DYS073 Dysphagia 33 0.067
72
P ADN016 Adenocarcinoma 56 0.064
73
GST023 Gastric Ulcer 53 0.064
74
MRB003 Morbid Obesity 47 0.064
75
CNV002 Conversion Disorder 37 0.064
76
SKN023 Skin Tag 33 0.064
77
GSG001 Gas Gangrene 51 0.061
78
P LPS002 Liposarcoma 49 0.061
79
P THY032 Thyroiditis 48 0.061
80
P MST018 Mesothelioma 45 0.061
81
CMP034 Complete Androgen Insensitivity Syndrome 45 0.061
82
NRR001 Neuroretinitis 38 0.061
83
INT071 Intestinal Perforation 35 0.061
84
GST007 Gastric Dilatation 31 0.061
85
TRC026 Tracheal Disease 27 0.061
86
MRF001 Marfan Syndrome 72 0.057
87
c MCP037 Mucopolysaccharidosis is 68 0.057
88
LVR012 Liver Cirrhosis 59 0.057
89
MLN007 Male Infertility 50 0.057
90
LPM004 Lipoma 48 0.057
91
P DDN001 Duodenal Ulcer 46 0.057
92
P FNC044 Fanconi Anemia, Complementation Group C 44 0.057
93
FSC004 Fasciitis 40 0.057
94
END072 Endotheliitis 39 0.057
95
c EHL027 Ehlers-Danlos Syndrome, Type Viic 35 0.057
96
DPH006 Diaphragmatic Eventration 30 0.057
97
P PLM064 Pulmonary Sequestration 24 0.057
98
WND002 Wandering Spleen 23 0.057
99
P ANG001 Angelman Syndrome 66 0.053
100
MNK001 Menkes Disease 65 0.053
101
TBR010 Tuberculosis 64 0.053
102
c MCP009 Mucopolysaccharidosis Ii 63 0.053
103
WLL001 Williams-Beuren Syndrome 59 0.053
104
P KDN018 Kidney Disease 57 0.053
105
P CFF001 Coffin-Siris Syndrome 54 0.053
106
MCR013 Microphthalmia 53 0.053
107
DFC004 Deficiency Anemia 52 0.053
108
P PRT013 Portal Hypertension 45 0.053
109
ESP023 Esophageal Disease 44 0.053
110
VGN023 Vaginitis 44 0.053
111
P PRT096 Peritoneal Mesothelioma 44 0.053
112
P CLL015 Collagen Disease 43 0.053
113
ART017 Aortic Disease 42 0.053
114
DVR002 Diverticulitis 40 0.053
115
TRC040 Tracheoesophageal Fistula 40 0.053
116
PSD009 Pseudohermaphroditism 39 0.053
117
NSP002 Nasopharyngitis 38 0.053
118
HRM002 Hermaphroditism 37 0.053
119
CHY006 Chylous Ascites 33 0.053
120
DDN009 Duodenal Obstruction 30 0.053
121
CYS001 Cystic Fibrosis 90 0.049
122
c HYP595 Hypertension, Essential 68 0.049
123
P CNG401 Congenital Heart Disease 68 0.049
124
P PLY014 Polycystic Kidney Disease 60 0.049
125
ACR008 Acrocallosal Syndrome 58 0.049
126
P BCK002 Beckwith-Wiedemann Syndrome 58 0.049
127
GRG001 Greig Cephalopolysyndactyly Syndrome 55 0.049
128
P HYP097 Hyperekplexia 52 0.049
129
WLF002 Wolf-Hirschhorn Syndrome 52 0.049
130
P EHL001 Ehlers-Danlos Syndrome 51 0.049
131
P SMP003 Simpson-Golabi-Behmel Syndrome 51 0.049
132
CHL067 Cholecystitis 51 0.049
133
P PNC044 Pancreatitis 51 0.049
134
LMY002 Leiomyoma 49 0.049
135
STS002 Situs Inversus 46 0.049
136
IMP002 Imperforate Anus 45 0.049
137
P INT068 Intestinal Disease 44 0.049
138
c MLG002 Malignant Peritoneal Mesothelioma 44 0.049
139
c ACH035 Achondrogenesis Ib 44 0.049
140
ACT055 Actinomycosis 41 0.049
141
OBS001 Obstructive Jaundice 40 0.049
142
CRK001 Cork-Handlers' Disease 40 0.049
143
NCR007 Necrotizing Fasciitis 39 0.049
144
SCH068 Schwartz-Jampel Syndrome, Type 1 38 0.049
145
CRB009 Cerebritis 37 0.049
146
PYL006 Pyloric Stenosis 37 0.049
147
TST015 Testicular Disease 37 0.049
148
P CMP008 Compartment Syndrome 36 0.049
149
ABD004 Abdominal Tuberculosis 33 0.049
150
INT052 Intestinal Volvulus 32 0.049
151
MVM001 Movement Disease 31 0.049
152
ANM028 Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 30 0.049
153
SXL003 Sexual Disorder 30 0.049
154
SWL001 Swallowing Disorders 20 0.049
155
RTR012 Retroperitoneal Liposarcoma 19 0.049
156
NSP010 Nasopharyngeal Teratoma 17 0.049
157
HPT023 Hepatocellular Carcinoma 90 0.045
158
ANR002 Aniridia 72 0.045
159
P OST005 Osteogenesis Imperfecta 70 0.045
160
c MCP003 Mucopolysaccharidosis Vii 69 0.045
161
c SPN225 Spondyloarthropathy 1 66 0.045
162
CHR103 Charge Syndrome 62 0.045
163
P VLC001 Velocardiofacial Syndrome 61 0.045
164
c MCP024 Mucopolysaccharidosis Type Vi 60 0.045
165
c EHL057 Ehlers-Danlos Syndrome, Type Iv 58 0.045
166
P RSP003 Respiratory Failure 58 0.045
167
P CRN015 Cornelia De Lange Syndrome 58 0.045
168
ARS001 Aarskog-Scott Syndrome 55 0.045
169
c MCL062 Mucolipidosis Ii Alpha/beta 55 0.045
170
WGR001 Wagr Syndrome 55 0.045
171
CRN248 Craniofrontonasal Dysplasia 52 0.045
172
P CTS001 Cutis Laxa 51 0.045
173
PTS001 Patau Syndrome 51 0.045
174
OCC006 Occipital Horn Syndrome 50 0.045
175
THR013 Thoracic Outlet Syndrome 47 0.045
176
c EHL055 Ehlers-Danlos Syndrome, Type Iii 47 0.045
177
IRN001 Iron Deficiency Anemia 47 0.045
178
P SLD010 Sialidosis, Type I 46 0.045
179
ACH005 Achalasia 46 0.045
180
c ART101 Aortic Valve Disease 2 46 0.045
181
SPN020 Spondylosis 46 0.045
182
c LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 46 0.045
183
UTR039 Uterine Fibroid 45 0.045
184
AZS001 Azoospermia 43 0.045
185
GRN039 Greenberg Skeletal Dysplasia 43 0.045
186
P HYD002 Hydronephrosis 42 0.045
187
P TRC086 Trichohepatoenteric Syndrome 1 42 0.045
188
INT051 Intussusception 41 0.045
189
MCN001 Mucinous Adenocarcinoma 41 0.045
190
URT001 Urethritis 40 0.045
191
PLY012 Polyhydramnios 39 0.045
192
c RBN009 Robinow Syndrome, Autosomal Recessive 39 0.045
193
c SPN081 Spondylocostal Dysostosis, Autosomal Recessive 38 0.045
194
LTR009 Lateral Meningocele Syndrome 38 0.045
195
c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 37 0.045
196
c MCP012 Mucopolysaccharidosis Ih 36 0.045
197
SYN036 Syncope 36 0.045
198
c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 35 0.045
199
P HMR005 Hemorrhoid 35 0.045
200
c CTS034 Cutis Laxa, Autosomal Recessive Type 1 32 0.045
201
PLL008 Pallister-Killian Syndrome 31 0.045
202
UND005 Undifferentiated Pleomorphic Sarcoma 31 0.045
203
ADJ001 Adjustment Disorder 30 0.045
204
c PLM128 Pulmonary Hypertension, Primary, 2 25 0.045
205
RCT017 Rectal Disease 23 0.045
206
VSC008 Vascular Hemostatic Disease 22 0.045
207
URC005 Urachal Cyst 21 0.045
208
SCR025 Scarf Syndrome 20 0.045
209
c TRC078 Trichohepatoenteric Syndrome 2 20 0.045
210
MLL004 Mallory-Weiss Syndrome 19 0.045
211
DFN031 Deafness, Epiphyseal Dysplasia, Short Stature 13 0.045
212
BWM001 Bowman's Membrane Folds or Rupture 7 0.045
213
P ATX030 Ataxia-Telangiectasia 76 0.040
214
GST019 Gastrointestinal Stromal Tumor 68 0.040
215
PTR006 Peters Anomaly 63 0.040
216
APR006 Apert Syndrome 63 0.040
217
P HRM001 Hermansky-Pudlak Syndrome 62 0.040
218
PCK002 Pick Disease 61 0.040
219
P DST002 Distal Arthrogryposis 59 0.040
220
c PNC108 Pancreatitis, Hereditary 59 0.040
221
P HMP002 Hemophagocytic Lymphohistiocytosis 59 0.040
222
P AND016 Andersen Syndrome 58 0.040
223
DNY001 Denys-Drash Syndrome 57 0.040
224
P PTT014 Pitt-Hopkins Syndrome 55 0.040
225
ACN002 Acanthosis Nigricans 53 0.040
226
P ESC003 Escobar Syndrome 53 0.040
227
ASP002 Aspartylglucosaminuria 53 0.040
228
HNT002 Hantavirus Pulmonary Syndrome 52 0.040
229
CHL071 Child Syndrome 51 0.040
230
VSC044 Visceral Myopathy 51 0.040
231
P MYP004 Myopathy 50 0.040
232
CRD002 Cri-Du-Chat Syndrome 49 0.040
233
CNN005 Connective Tissue Disease 49 0.040
234
EDW001 Edwards Syndrome 49 0.040
235
PHR003 Pharyngitis 48 0.040
236
c EHL054 Ehlers-Danlos Syndrome, Type Vi 48 0.040
237
LYM021 Lymphadenitis 48 0.040
238
ISC004 Ischemia 47 0.040
239
BLD044 Bladder Disease 47 0.040
240
P LMY004 Leiomyosarcoma 47 0.040
241
LYM022 Lymphangioma 46 0.040
242
MYC002 Mycobacterium Avium Complex Disease 46 0.040
243
BRR013 Barrett Esophagus/esophageal Adenocarcinoma 46 0.040
244
OCL005 Oculocerebrorenal Syndrome 45 0.040
245
c PST041 Posterior Urethral Valves 43 0.040
246
P INT030 Intracranial Aneurysm 41 0.040
247
PRC012 Pericardial Effusion 41 0.040
248
c MLG081 Malignant Teratoma 41 0.040
249
NTR005 Nutritional Deficiency Disease 41 0.040
250
WRN004 Wrinkly Skin Syndrome 40 0.040
251
P HYP009 Hypertrophic Pyloric Stenosis 39 0.040
252
ANN002 Anencephaly 38 0.040
253
EMN001 Emanuel Syndrome 38 0.040
254
P SPS003 Spastic Diplegia 37 0.040
255
VRC001 Varicocele 36 0.040
256
FBR019 Fibromatosis 36 0.040
257
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 34 0.040
258
c GLL024 Gallbladder Disease 1 33 0.040
259
MDS022 Mediastinitis 33 0.040
260
BLD053 Blood Platelet Disease 32 0.040
261
P ATX010 Ataxia Neuropathy Spectrum 31 0.040
262
PNT005 Pentalogy of Cantrell 30 0.040
263
MLG098 Malignant Mixed Mullerian Tumor 30 0.040
264
c OPT050 Opitz Gbbb Syndrome, Type Ii 30 0.040
265
MCH011 Meacham Syndrome 29 0.040
266
c OMD001 Omodysplasia 1 28 0.040
267
TFT003 Tufting Enteropathy 27 0.040
268
CHR518 Chromosome 9p Deletion Syndrome 27 0.040
269
WTH001 Withdrawal Disorder 27 0.040
270
PRM025 Primary Bacterial Infectious Disease 27 0.040
271
IRS003 Iris Disease 25 0.040
272
17Q004 17q12 Microdeletion Syndrome 25 0.040
273
15Q002 15q24 Microdeletion Syndrome 24 0.040
274
MSC004 Muscle Tissue Disease 23 0.040
275
CHR266 Chromosome 8p23.1 Deletion 21 0.040
276
LWR007 Lowry Maclean Syndrome 20 0.040
277
PLM124 Pulmonary Hypertension, Neonatal 15 0.040
278
XLN086 X-Linked Ehlers-Danlos Syndrome 14 0.040
279
SPL038 Splenogonadal Fusion - Limb Defects - Micrognathia 14 0.040
280
ATR009 Atrophy of Testis 13 0.040
281
NRL016 Neural Tube Defects 74 0.035
282
TTR001 Tetralogy of Fallot 68 0.035
283
SMT004 Smith-Lemli-Opitz Syndrome 67 0.035
284
P HLP001 Holoprosencephaly 62 0.035
285
DWN001 Down Syndrome 62 0.035
286
PRP027 Peripheral Vascular Disease 62 0.035
287
WRN001 Werner Syndrome 61 0.035
288
PLL001 Pallister-Hall Syndrome 60 0.035
289
P AXN010 Axenfeld-Rieger Syndrome, Type 3 60 0.035
290
P LVR013 Liver Disease 59 0.035
291
P PLM036 Pulmonary Fibrosis 59 0.035
292
INC021 Incontinentia Pigmenti 58 0.035
293
c MCP001 Mucopolysaccharidosis Iii 58 0.035
294
ANX002 Anxiety Disorder 57 0.035
295
LWS003 Lowe Syndrome 56 0.035
296
P PNM007 Pneumonia 56 0.035
297
LPR018 Leprechaunism 56 0.035
298
HMF006 Hemifacial Microsomia 55 0.035
299
BRC012 Brucellosis 55 0.035
300
SMT008 Smith-Magenis Syndrome 54 0.035
301
P ACR001 Aicardi-Goutieres Syndrome 53 0.035
302
P FRS003 Fraser Syndrome 53 0.035
303
P MCP010 Mucopolysaccharidosis 53 0.035
304
c MNN025 Mannosidosis, Alpha-, Types I and Ii 53 0.035
305
CHR020 Chronic Interstitial Cystitis 53 0.035
306
P NPH012 Nephrotic Syndrome 52 0.035
307
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 51 0.035
308
P DGR001 Digeorge Syndrome 51 0.035
309
P WVR001 Weaver Syndrome 51 0.035
310
VCT001 Vacterl Association 51 0.035
311
P HYP040 Hypospadias 50 0.035
312
VHW001 Vohwinkel Syndrome 50 0.035
313
P MCR010 Microcephaly 49 0.035
314
ULN003 Ulnar-Mammary Syndrome 49 0.035
315
P SZR006 Seizure Disorder 48 0.035
316
AMN001 Amenorrhea 48 0.035
317
P GLL020 Gallbladder Disease 48 0.035
318
CLT003 Colitis 47 0.035
319
OST044 Osteoglophonic Dysplasia 47 0.035
320
SLP005 Sleep Disorder 47 0.035
321
c ACH033 Achondrogenesis, Type Ia 47 0.035
322
c EHL032 Ehlers-Danlos Syndrome, Type Viib 47 0.035
323
PTN002 Patent Ductus Arteriosus 46 0.035
324
P LRY019 Laryngitis 46 0.035
325
BLR001 Biliary Atresia 44 0.035
326
RTN017 Retinal Detachment 44 0.035
327
P PNC045 Pancreatic Agenesis 44 0.035
328
P MLT134 Multiple Pterygium Syndrome, Lethal Type 44 0.035
329
CNS004 Constipation 44 0.035
330
P SCL018 Scoliosis 44 0.035
331
KDS001 Kid Syndrome 44 0.035
332
CSY001 C Syndrome 44 0.035
333
FCT013 Factor V Leiden Thrombophilia 43 0.035
334
ANR004 Anuria 43 0.035
335
DYS018 Dysostosis 43 0.035
336
RTN023 Retinitis 43 0.035
337
P ACH011 Achondrogenesis 42 0.035
338
P CRV039 Cervicitis 42 0.035
339
ADT003 Auditory System Disease 42 0.035
340
PYD002 Pyoderma 41 0.035
341
CLN019 Colonic Disease 41 0.035
342
P KLF001 Kleefstra Syndrome 41 0.035
343
RDC002 Radiculopathy 41 0.035
344
TRN060 Truncus Arteriosus 40 0.035
345
CYS014 Cystadenocarcinoma 40 0.035
346
SMN007 Seminoma 40 0.035
347
TRN044 Transposition of the Great Arteries 39 0.035
348
c CRN139 Cornelia De Lange Syndrome 1 39 0.035
349
CRP017 Carpal Tunnel Syndrome, Familial 39 0.035
350
CYS002 Cystic Lymphangioma 39 0.035
351
PRL032 Perlman Syndrome 38 0.035
352
ABL002 Ablepharon-Macrostomia Syndrome 37 0.035
353
MTB004 Metabolic Acidosis 36 0.035
354
P OVR046 Ovarian Cyst 36 0.035
355
P MNN007 Meningocele 36 0.035
356
RSP006 Respiratory System Disease 36 0.035
357
GPS001 Gapo Syndrome 36 0.035
358
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 36 0.035
359
PNM010 Pneumothorax, Primary Spontaneous 35 0.035
360
SPL006 Splenic Infarction 35 0.035
361
BHR002 Bohring-Opitz Syndrome 35 0.035
362
c FML305 Familial Abdominal Aortic Aneurysm 34 0.035
363
PRV003 Perivascular Epithelioid Cell Tumor 34 0.035
364
ORC001 Orchitis 33 0.035
365
MGS001 Megaesophagus 33 0.035
366
c ATS082 Autosomal Dominant Robinow Syndrome 33 0.035
367
RTS001 Ritscher-Schinzel Syndrome 33 0.035
368
INT253 Intestinal Benign Neoplasm 33 0.035
369
P DBR002 De Barsy Syndrome 33 0.035
370
RVL002 Ruvalcaba Syndrome 33 0.035
371
PLC008 Placenta Disease 33 0.035
372
ARS002 Arsacs 33 0.035
373
PNM003 Pneumatosis Cystoides Intestinalis 32 0.035
374
c CTS008 Cutis Laxa, Autosomal Dominant 32 0.035
375
c HTR007 Heterotopia, Periventricular, Ed Variant 31 0.035
376
HYP007 Hypermobility Syndrome 31 0.035
377
SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 30 0.035
378
c HYP539 Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive 30 0.035
379
48X003 48,xxyy Syndrome 30 0.035
380
DDN004 Duodenogastric Reflux 29 0.035
381
HRS011 Horseshoe Kidney 29 0.035
382
SCR024 Sacrococcygeal Teratoma 28 0.035
383
PLM013 Pulmonary Immaturity 28 0.035
384
c CTS019 Cutis Laxa, Ad 27 0.035
385
MYC015 Mycobacterium Fortuitum 27 0.035
386
INN003 Iniencephaly 27 0.035
387
PNC092 Pancreatic Agenesis and Congenital Heart Defects 27 0.035
388
ESP029 Esophageal Atresia/tracheoesophageal Fistula 25 0.035
389
c CRP022 Carpenter Syndrome 2 25 0.035
390
DYS160 Dyssegmental Dysplasia, Silverman-Handmaker Type 24 0.035
391
TRS012 Trisomy 22 24 0.035
392
ALR002 Al-Raqad Syndrome 23 0.035
393
BDS002 Bod Syndrome 22 0.035
394
AXL004 Axial Mesodermal Dysplasia Spectrum 21 0.035
395
c BNG076 Benign Exophthalmos Syndrome 21 0.035
396
TLH001 Tel Hashomer Camptodactyly Syndrome 21 0.035
397
NNT039 Neonatal Marfan Syndrome 21 0.035
398
CHR229 Chromosome 20p Duplication 20 0.035
399
AND005 Androgen Insensitivity Syndrome, Mild 19 0.035
400
KLF003 Kleefstra Syndrome Due to 9q34 Microdeletion 18 0.035
401
MCN018 Mucinous Adenocarcinoma of the Appendix 18 0.035
402
48X002 48,xxxy Syndrome 16 0.035
403
PLM116 Pulmonary Artery Hypoplasia 15 0.035
404
ANP015 Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies 15 0.035
405
SND005 Sandifer Syndrome 15 0.035
406
CHL076 Chilaiditi Syndrome 15 0.035
407
THR017 Thoracoabdominal Syndrome 14 0.035
408
DST071 Distal Monosomy 19p13.3 14 0.035
409
PRX069 Proximal 16p11.2 Microdeletion Syndrome 14 0.035
410
ARR032 Arrhinia - Choanal Atresia - Microphthalmia 12 0.035
411
XLN145 X-Linked Intellectual Disability, Pai Type 12 0.035
412
c RNL016 Renal Infectious Disease 7 0.035
413
P CLR023 Colorectal Cancer 95 0.029
414
P HNT016 Huntington Disease 78 0.029
415
P AST005 Asthma 77 0.029
416
HV1006 Hiv-1 77 0.029
417
GLC006 Galactosemia 76 0.029
418
ULC004 Ulcerative Colitis 75 0.029
419
WLS001 Wilson Disease 74 0.029
420
c FNC027 Fanconi Anemia, Complementation Group a 71 0.029
421
ESP021 Esophageal Cancer 69 0.029
422
P FML161 Familial Mediterranean Fever, Ar 67 0.029
423
INC002 Inclusion Body Myositis 67 0.029
424
P FCL005 Focal Segmental Glomerulosclerosis 65 0.029
425
CNG034 Congestive Heart Failure 65 0.029
426
P INF038 Influenza 64 0.029
427
P PRM002 Primary Hyperoxaluria 64 0.029
428
LKC001 Leukocyte Adhesion Deficiency 61 0.029
429
P END044 Endometriosis 61 0.029
430
THY028 Thyroid Cancer 60 0.029
431
c HPT016 Hepatitis B 59 0.029
432
ALC007 Alcohol Dependence 59 0.029
433
c MCP004 Mucopolysaccharidosis Iv 58 0.029
434
BLD087 Bladder Cancer, Somatic 58 0.029
435
MCK007 Muckle-Wells Syndrome 58 0.029
436
P MCK022 Meckel Syndrome 1 58 0.029
437
c MYT021 Myotonic Dystrophy 1 58 0.029
438
P OCL013 Oculodentodigital Dysplasia 57 0.029
439
c CNG006 Congenital Hypothyroidism 57 0.029
440
IMG001 Image Syndrome 56 0.029
441
HJD001 Hajdu-Cheney Syndrome 55 0.029
442
ACQ007 Acquired Immunodeficiency Syndrome 55 0.029
443
TTN003 Tetanus 55 0.029
444
KNS001 Kniest Dysplasia 55 0.029
445
VSC007 Vascular Disease 55 0.029
446
CRB037 Cerebral Palsy 54 0.029
447
P MYS005 Myositis 54 0.029
448
PLM033 Pulmonary Embolism 53 0.029
449
OLL001 Ollier Disease 52 0.029
450
ETN001 Eating Disorder 52 0.029
451
CLF027 Cleft Palate, Isolated 52 0.029
452
RHB003 Rhabdomyosarcoma 51 0.029
453
P ICH001 Ichthyosis Vulgaris 51 0.029
454
PLM129 Pulmonary Disease, Chronic Obstructive 51 0.029
455
P FTL001 Fetal Alcohol Syndrome 50 0.029
456
PRS047 Prostatitis 50 0.029
457
P CNJ013 Conjunctivitis 50 0.029
458
P NRV007 Nervous System Disease 49 0.029
459
EPD016 Epidermolysis Bullosa 49 0.029
460
P GST044 Gastritis 49 0.029
461
JCB001 Jacobsen Syndrome 49 0.029
462
P FNG005 Feingold Syndrome 48 0.029
463
INT146 Intervertebral Disc Disease 48 0.029
464
P NRP001 Neuropathy 48 0.029
465
c SCN006 Secondary Syphilis 48 0.029
466
P KBK002 Kabuki Syndrome 1 47 0.029
467
P KLP003 Klippel-Feil Syndrome 47 0.029
468
c GNG001 Gangliosidosis Gm1 47 0.029
469
PYD001 Pyoderma Gangrenosum 46 0.029
470
YLL001 Yellow Nail Syndrome 46 0.029
471
ACR012 Aicardi Syndrome 46 0.029
472
OBS006 Obstructive Lung Disease 45 0.029
473
FLT006 Floating-Harbor Syndrome 45 0.029
474
NRM005 Neuromuscular Disease 45 0.029
475
c CNT033 Central Nervous System Cancer 45 0.029
476
P RBN002 Robinow Syndrome 45 0.029
477
GST045 Gastroenteritis 45 0.029
478
NRF007 Neurofibroma 45 0.029
479
MYX005 Myxoid Liposarcoma 45 0.029
480
NRL005 Neurilemmoma 45 0.029
481
P UTR038 Uterine Disease 44 0.029
482
P NML001 Nemaline Myopathy 44 0.029
483
MYL020 Myelomeningocele 44 0.029
484
P NRV006 Nervous System Cancer 44 0.029
485
c HYP273 Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia 44 0.029
486
GST027 Gastric Lymphoma 43 0.029
487
NRT004 Neuritis 43 0.029
488
NRC020 Neuroectodermal Tumor 43 0.029
489
c MCR256 Microphthalmia, Syndromic 9 43 0.029
490
MSM001 Meesmann Corneal Dystrophy 42 0.029
491
HYP266 Hypoxia 42 0.029
492
PHL006 Phelan-Mcdermid Syndrome 42 0.029
493
P PYL005 Pyelonephritis 42 0.029
494
P PTS002 Ptosis 42 0.029
495
OLG003 Oligohydramnios 42 0.029
496
P ENC018 Encephalopathy 42 0.029
497
SWY002 Swyer Syndrome 41 0.029
498
HML015 Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency 41 0.029
499
GST053 Gastric Cancer 41 0.029
500
DXT001 Dextrocardia 41 0.029
501
P MSC007 Muscle Hypertrophy 41 0.029
502
MCR103 Microtia 40 0.029
503
CLN015 Colon Adenocarcinoma 40 0.029
504
P PRP023 Peripheral Neuropathy 40 0.029
505
CRN030 Coronary Stenosis 40 0.029
506
CYS009 Cystadenoma 40 0.029
507
PRT019 Protein-Losing Enteropathy 40 0.029
508
ALB002 Albinism 40 0.029
509
EXS007 Exstrophy of the Bladder 40 0.029
510
c MCL016 Mucolipidosis Iii Gamma 40 0.029
511
MYH012 Myhre Syndrome 39 0.029
512
c SML016 Small Intestine Cancer 39 0.029
513
PRT082 Preterm Premature Rupture of the Membranes 39 0.029
514
SKL017 Skeletal Dysplasias 39 0.029
515
P MSC033 Muscle Disorders 38 0.029
516
P ICH004 Ichthyosis 38 0.029
517
HYP458 Hyper Ige Syndrome 38 0.029
518
PLR005 Pleuropneumonia 38 0.029
519
c ACT042 Acute Pyelonephritis 38 0.029
520
P SPN016 Spondylocostal Dysostosis 38 0.029
521
SKL014 Skeletal Dysplasia 38 0.029
522
IMM013 Immunodeficiency, Centromere Instability and Facial Anomalies Syndrome 37 0.029
523
HYP457 Hypertrophic Scars 37 0.029
524
HYP343 Hypothryoidism, Congenital, Nongoitrous 4 37 0.029
525
FBR054 Fibroma 36 0.029
526
PLR007 Pleural Empyema 36 0.029
527
SLT008 Solitary Fibrous Tumor 36 0.029
528
ESP025 Esophagus Adenocarcinoma 36 0.029
529
LYM011 Lymphogranuloma Venereum 36 0.029
530
HRT015 Heritable Pulmonary Arterial Hypertension 36 0.029
531
IRN002 Iron Metabolism Disease 36 0.029
532
INT046 Intestinal Tuberculosis 36 0.029
533
MYF002 Myofascial Pain Syndrome 36 0.029
534
CRR007 Cirrhosis, Cryptogenic 36 0.029
535
MCN008 Mucinous Cystadenocarcinoma 35 0.029
536
ESN005 Eosinophilic Gastroenteritis 35 0.029
537
CRN088 Craniorachischisis 35 0.029
538
MSN003 Mesenteric Vascular Occlusion 35 0.029
539
P CYS017 Cystic Teratoma 35 0.029
540
ERY017 Erythema Elevatum Diutinum 35 0.029
541
DDN011 Duodenal Atresia 35 0.029
542
HMN016 Hemangioendothelioma 35 0.029
543
46X028 46xy Sex Reversal 1 35 0.029
544
RCT011 Rectal Prolapse 34 0.029
545
ADS002 Adie Syndrome 34 0.029
546
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 34 0.029
547
PRP021 Peripheral Nervous System Neoplasm 34 0.029
548
LPB001 Lipoblastoma 34 0.029
549
CTL005 Catel-Manzke Syndrome 34 0.029
550
INT060 Intestinal Atresia 33 0.029
551
ISC015 Ischemic Colitis 33 0.029
552
WLS004 Wilson-Turner Syndrome 33 0.029
553
PRL008 Paralytic Ileus 33 0.029
554
FTL007 Fetal Hydantoin Syndrome 33 0.029
555
P PLM030 Pleomorphic Rhabdomyosarcoma 32 0.029
556
HYP622 Hypertrichotic Osteochondrodysplasia 32 0.029
557
URT016 Urethral Diverticulum 32 0.029
558
LYS021 Loeys-Dietz Syndrome 3 32 0.029
559
ILL001 Ileal Neoplasm 32 0.029
560
HMC020 Homocystinuria, B6-Responsive and Nonresponsive Types 32 0.029
561
INT011 Interstitial Emphysema 32 0.029
562
CRN048 Craniofacial-Deafness-Hand Syndrome 32 0.029
563
VGN020 Vaginal Disease 32 0.029
564
DVL002 Developmental Disabilities 32 0.029
565
c BNG032 Benign Mesothelioma 32 0.029
566
BRS090 Breast Reconstruction 32 0.029
567
c FML297 Familial Thyroid Dyshormonogenesis 31 0.029
568
SPN205 Spinal Muscular Atrophy, X-Linked 2, Infantile 31 0.029
569
SNS003 Sensory Peripheral Neuropathy 31 0.029
570
ACL001 Acalculous Cholecystitis 31 0.029
571
PRP019 Peripheral Nervous System Disease 31 0.029
572
EPD018 Epididymo-Orchitis 30 0.029
573
c MCP036 Mucopolysaccharidosis Ih/s 30 0.029
574
OCL034 Oculocerebrocutaneous Syndrome 30 0.029
575
EXN003 Exencephaly 30 0.029
576
CHR084 Chromosomal Disease 30 0.029
577
CYS015 Cystadenofibroma 30 0.029
578
HPT074 Hepatic Adenoma, Somatic 30 0.029
579
PLM103 Pulmonary Capillary Hemangiomatosis 30 0.029
580
FCT008 Factitious Disorder 30 0.029
581
OPT054 Opitz-Kaveggia Syndrome 30 0.029
582
c EHL047 Ehlers-Danlos Syndrome, Musculocontractural Type 1 29 0.029
583
c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 29 0.029
584
JBR034 Joubert Syndrome with Orofaciodigital Defect 29 0.029
585
MYL015 Myeloproliferative Disorder with Eosinophilia 29 0.029
586
PLY031 Polydactyly Myopia Syndrome 29 0.029
587
OVR047 Ovarian Cystadenocarcinoma 29 0.029
588
DFF002 Diffuse Pulmonary Fibrosis 28 0.029
589
c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 28 0.029
590
c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 28 0.029
591
CHR543 Chromosome 2q37 Deletion Syndrome 28 0.029
592
DRG012 Drug Rash with Eosinophilia and Systemic Symptoms 28 0.029
593
LYS018 Loeys-Dietz Syndrome 2 28 0.029
594
CYT004 Cytomegalic Inclusion Disease 27 0.029
595
SRF006 Surfactant Dysfunction 27 0.029
596
SKT001 Sakati Syndrome 27 0.029
597
CRN006 Coronary Aneurysm 27 0.029
598
HNM002 Hinman Syndrome 27 0.029
599
c RBN018 Robinow Syndrome, Autosomal Dominant 1 27 0.029
600
SPR035 Superior Vena Cava Syndrome 27 0.029
601
MLT123 Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects 27 0.029
602
CHL013 Cholecystolithiasis 26 0.029
603
TRL003 Toriello Carey Syndrome 26 0.029
604
MSM004 Mesomelia-Synostoses Syndrome 25 0.029
605
THY098 Thyroid Ectopia 25 0.029
606
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 25 0.029
607
OCL033 Oculocerebral Syndrome with Hypopigmentation 25 0.029
608
2Q3002 2q37 Microdeletion Syndrome 25 0.029
609
MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 25 0.029
610
RGR002 Rieger Syndrome, Type 2 25 0.029
611
SGM002 Sigmoid Neoplasm 25 0.029
612
MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 25 0.029
613
c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 24 0.029
614
ISL091 Isolated Corpus Callosum Agenesis 24 0.029
615
P VCT008 Vacterl with Hydrocephalus 24 0.029
616
PRP074 Peripheral Resistance to Thyroid Hormones 23 0.029
617
DYS011 Dyskinesia of Esophagus 23 0.029
618
GRN008 Granular Cell Carcinoma 23 0.029
619
EHL042 Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 23 0.029
620
c ATS284 Autosomal Recessive Multiple Pterygium Syndrome 23 0.029
621
ACR029 Acrofacial Dysostosis Catania Type 23 0.029
622
ARG004 Argyria 22 0.029
623
c CTS041 Cutis Laxa, Autosomal Dominant 3 22 0.029
624
FNC006 Functional Gastric Disease 22 0.029
625
c ANT010 Anterior Compartment Syndrome 22 0.029
626
17P002 17p13.3 Microduplication Syndrome 22 0.029
627
MLT104 Multiple Benign Circumferential Skin Creases on Limbs 22 0.029
628
CNG437 Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay 22 0.029
629
c ADM010 Adams-Oliver Syndrome 5 21 0.029
630
CHR224 Chromosome 1q Duplication 21 0.029
631
LYS020 Loeys-Dietz Syndrome 5 21 0.029
632
TTT001 Tatton-Brown-Rahman Syndrome 21 0.029
633
DST041 Distal Monosomy 3p 20 0.029
634
ART046 Arthrogryposis Multiplex Congenita Neurogenic Type 20 0.029
635
FML300 Familial Joint Instability Syndrome 19 0.029
636
TTR012 Tetrasomy 9p 19 0.029
637
c BRT029 Brittle Cornea Syndrome 2 19 0.029
638
SCH025 Schisis Association 19 0.029
639
2Q3005 2q31.1 Microdeletion Syndrome 19 0.029
640
CRN190 Craniosynostosis - Fibular Aplasia 18 0.029
641
ACH018 Achondroplasia and Severe Combined Immunodeficiency 18 0.029
642
TBB001 Tibia Absent Polydactyly Arachnoid Cyst 18 0.029
643
HRT006 Heart Aneurysm 18 0.029
644
GNT017 Genito Palato Cardiac Syndrome 17 0.029
645
CHR382 Chromosome 18q Deletion Syndrome 17 0.029
646
c MNS011 Monosomy 9q22.3 17 0.029
647
FML277 Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis with Severe Ocular Involvement 17 0.029
648
AZY001 Azygos Continuation of the Inferior Vena Cava 16 0.029
649
IDP075 Idiopathic and/or Familial Pulmonary Arterial Hypertension 16 0.029
650
CRN226 Craniosynostosis - Hydrocephalus - Arnold-Chiari Malformation Type I - Radioulnar Synostosis 16 0.029
651
SVR009 Seaver Cassidy Syndrome 16 0.029
652
TRC038 Tracheobronchomegaly 16 0.029
653
SPR040 Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas 16 0.029
654
CNG062 Congenital Bronchobiliary Fistula 16 0.029
655
GRX001 Grix Blankenship Peterson Syndrome 16 0.029
656
BLP009 Blepharonasofacial Malformation Syndrome 16 0.029
657
DST045 Distal Trisomy 6p 16 0.029
658
PFF004 Pfeiffer Palm Teller Syndrome 16 0.029
659
BRC027 Brachydactyly Mononen Type 16 0.029
660
INT240 Intellectual Disability, Wolff Type 15 0.029
661
PRG024 Progeroid Syndrome Petty Type 15 0.029
662
CNG092 Congenital Extrahepatic Portosystemic Shunt 15 0.029
663
MYC060 Mycophenolate Mofetil Embryopathy 15 0.029
664
MSC083 Muscular Pseudohypertrophy - Hypothyroidism 15 0.029
665
CLF019 Cleft Palate Short Stature Vertebral Anomalies 14 0.029
666
ARC018 Arachnodactyly - Abnormal Ossification - Intellectual Disability 14 0.029
667
DST037 Distal Monosomy 9p 14 0.029
668
INT245 Intellectual Disability - Polydactyly - Uncombable Hair 14 0.029
669
RNL040 Renal Genital Middle Ear Anomalies 14 0.029
670
ANR012 Aniridia Absent Patella 14 0.029
671
c CNG339 Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies 14 0.029
672
NND005 Non-Distal Trisomy 13q 14 0.029
673
c SPN121 Spondylocostal Dysostosis 1 14 0.029
674
RCT033 Rectal Duplication 14 0.029
675
DRM037 Dermato-Cardio-Skeletal Syndrome, Borrone Type 14 0.029
676
RSS007 Resistance to Thyrotropin-Releasing Hormone Syndrome 14 0.029
677
CNG235 Congenital Microgastria 14 0.029
678
DSH001 Daish Hardman Lamont Syndrome 14 0.029
679
15Q003 15q14 Microdeletion Syndrome 14 0.029
680
DST038 Distal Monosomy 7q36 13 0.029
681
6P2001 6p22 Microdeletion Syndrome 13 0.029
682
XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 13 0.029
683
CND009 Conductive Deafness with Malformed External Ear 13 0.029
684
CRN224 Craniofaciofrontodigital Syndrome 13 0.029
685
ILM001 Ileum Cancer 13 0.029
686
NTL002 Natal Teeth, Intestinal Pseudoobstruction and Patent Ductus 12 0.029
687
BRC077 Brachydactyly - Mesomelia - Intellectual Disability - Heart Defects 12 0.029
688
INT234 Intellectual Disability - Hypotonia - Skin Hyperpigmentation 12 0.029
689
PLM045 Palmer Pagon Syndrome 11 0.029
690
FTL024 Fetal Minoxidil Syndrome 11 0.029
691
KRS001 Krauss Herman Holmes Syndrome 11 0.029
692
MCK004 Meckel's Diverticulitis 11 0.029
693
CPR003 Cooper-Jabs Syndrome 11 0.029
694
LMB013 Limb Reduction Defect 11 0.029
695
CTR089 Cataract - Aberrant Oral Frenula - Growth Delay 11 0.029
696
CML001 Cumulative Trauma Disorders 10 0.029
697
c CRN178 Coronary Heart Disease 6 10 0.029
698
PRC041 Pericardial and Diaphragmatic Defect 9 0.029
699
MLL008 Mullerian Agenesis 9 0.029
700
CNG131 Congenital Unilateral Pulmonary Hypoplasia 9 0.029
701
VSC009 Vascular Skin Disease 9 0.029
702
CHR494 Chromosome 15q25 Deletion Syndrome 8 0.029
703
HNT008 Hunter Rudd Hoffmann Syndrome 8 0.029
704
LPM001 Lipoma of Spermatic Cord 8 0.029
705
SGM001 Sigmoid Disease 8 0.029
706
GSB001 Gas Bloat Syndrome 7 0.029
707
P ALZ034 Alzheimer Disease 98 0.020
708
c AMY091 Amyotrophic Lateral Sclerosis 1 83 0.020
709
P DBT085 Diabetes Mellitus, Insulin-Dependent 82 0.020
710
CRH001 Crohn's Disease 80 0.020
711
P OST012 Osteoarthritis 79 0.020
712
P MYC007 Myocardial Infarction 76 0.020
713
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 75 0.020
714
FBR012 Fabry Disease 75 0.020
715
c DLT002 Dilated Cardiomyopathy 73 0.020
716
P NRB001 Neuroblastoma 73 0.020
717
P APL001 Aplastic Anemia 70 0.020
718
P OVR042 Ovarian Cancer 69 0.020
719
P CRN211 Coronary Artery Disease 68 0.020
720
P BRD002 Bardet-Biedl Syndrome 68 0.020
721
BRK010 Burkitt Lymphoma 68 0.020
722
P LGH007 Leigh Syndrome 67 0.020
723
P CSH001 Cushing's Syndrome 67 0.020
724
GLL008 Gilles De La Tourette Syndrome 67 0.020
725
P FRG001 Fragile X Syndrome 66 0.020
726
P NRF002 Neurofibromatosis 66 0.020
727
GLN010 Glanzmann Thrombasthenia 65 0.020
728
c HPT001 Hepatitis C 64 0.020
729
CST001 Costello Syndrome 64 0.020
730
P STM004 Stomach Cancer 63 0.020
731
BLM001 Bloom Syndrome 63 0.020
732
c SYS005 Systemic Scleroderma 62 0.020
733
c CHR089 Chronic Kidney Failure 61 0.020
734
WLM007 Wilms Tumor Susceptibility-5 61 0.020
735
FBR011 Fibrodysplasia Ossificans Progressiva 60 0.020
736
P AMY004 Amyloidosis 60 0.020
737
P HRP006 Herpes Simplex 60 0.020
738
TST021 Testicular Germ Cell Tumor 60 0.020
739
LDD001 Ladd Syndrome 60 0.020
740
c BRD010 Bardet-Biedl Syndrome 1 59 0.020
741
TYP007 Typhoid Fever 59 0.020
742
P HYP055 Hypoplastic Left Heart Syndrome 58 0.020
743
CFF002 Coffin-Lowry Syndrome 57 0.020
744
TWN003 Townes-Brocks Syndrome 57 0.020
745
OTT002 Otitis Media 57 0.020
746
ABT001 Abetalipoproteinemia 57 0.020
747
P CRN037 Craniosynostosis 57 0.020
748
KLN001 Klinefelter's Syndrome 57 0.020
749
MBS002 Moebius Syndrome 57 0.020
750
BRN024 Bronchitis 56 0.020
751
MCK005 Mckusick-Kaufman Syndrome 56 0.020
752
ISC006 Ischemic Heart Disease 56 0.020
753
P CNV004 Canavan Disease 56 0.020
754
P XRD010 Xeroderma Pigmentosum, Variant Type 56 0.020
755
MLT135 Multiple Sulfatase Deficiency 55 0.020
756
EWN003 Ewing Sarcoma 55 0.020
757
CNT097 Central Hypoventilation Syndrome, Congenital 55 0.020
758
P FCS002 Fucosidosis 55 0.020
759
PSY004 Psychotic Disorder 55 0.020
760
DRM014 Dermatofibrosarcoma Protuberans 54 0.020
761
P HYD006 Hydrocephalus 54 0.020
762
DRM006 Dermatitis 54 0.020
763
P RHB017 Rhabdoid Tumor 54 0.020
764
CNT047 Contact Dermatitis 53 0.020
765
MLK003 Melkersson-Rosenthal Syndrome 53 0.020
766
CHR001 Churg-Strauss Syndrome 53 0.020
767
MXD005 Mixed Connective Tissue Disease 53 0.020
768
P SCK004 Seckel Syndrome 53 0.020
769
CCH002 Coach Syndrome 53 0.020
770
P MLS001 Melas Syndrome 53 0.020
771
DBT010 Diabetic Neuropathy 53 0.020
772
P RNL100 Renal Hypodysplasia/aplasia 1 52 0.020
773
P STC001 Stickler Syndrome 52 0.020
774
c NRF019 Neurofibromatosis, Type 2 52 0.020
775
PRP025 Peripheral Primitive Neuroectodermal Tumor 52 0.020
776
c ACT210 Acute Respiratory Distress Syndrome 52 0.020
777
c DYS166 Dysautonomia, Familial 52 0.020
778
MSL001 Measles 52 0.020
779
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 52 0.020
780
c MTB001 Metabolic Syndrome X 52 0.020
781
c CNT035 Central Nervous System Disease 52 0.020
782
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 51 0.020
783
ART021 Arteriosclerosis 51 0.020
784
SCH016 Schimke Immunoosseous Dysplasia 51 0.020
785
PLY023 Polycystic Liver Disease 50 0.020
786
VRL011 Viral Infectious Disease 50 0.020
787
HPY002 H. Pylori Infection 50 0.020
788
BBS001 Babesiosis 50 0.020
789
P MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 50 0.020
790
SNS001 Sensorineural Hearing Loss 49 0.020
791
BRN022 Bronchiectasis 49 0.020
792
CMP002 Campylobacteriosis 49 0.020
793
P PLY006 Polydactyly 49 0.020
794
ACT049 Acute Disseminated Encephalomyelitis 49 0.020
795
KRT002 Keratomalacia 49 0.020
796
c INF071 Inflammatory Bowel Disease 1 48 0.020
797
GLC012 Galactosialidosis 48 0.020
798
P ENC004 Encephalitis 48 0.020
799
OST017 Osteomyelitis 48 0.020
800
BLS002 Blastomycosis 48 0.020
801
ART111 Artery Disease 48 0.020
802
WLL006 Wells Syndrome 48 0.020
803
P PTT050 Pituitary Adenoma, Growth Hormone-Secreting 47 0.020
804
MGL001 Megaloblastic Anemia 47 0.020
805
P PLG001 Pelger-Huet Anomaly 47 0.020
806
THR100 Thrombocytopenic Purpura, Autoimmune 47 0.020
807
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 47 0.020
808
HYP542 Hypersensitivity Syndrome, Carbamazepine-Induced 47 0.020
809
WHM001 Whim Syndrome 47 0.020
810
MFF001 Maffucci Syndrome 47 0.020
811
P THR003 Thoracic Aortic Aneurysm 47 0.020
812
PRN038 Prune Belly Syndrome 47 0.020
813
PPT005 Peptic Ulcer Disease 47 0.020
814
FDL002 Food Allergy 47 0.020
815
NRG002 Neurogenic Bladder 47 0.020
816
c PRM126 Primary Peritoneal Carcinoma 47 0.020
817
LRN003 Learning Disability 47 0.020
818
SLR001 Sialuria 47 0.020
819
TTH006 Tooth Disease 47 0.020
820
P CYS018 Cystitis 47 0.020
821
P D2H001 D-2-Hydroxyglutaric Aciduria 47 0.020
822
MRS004 Marshall-Smith Syndrome 47 0.020
823
P DBT005 Diabetes Insipidus 46 0.020
824
P ENC008 Encephalocele 46 0.020
825
IDP011 Idiopathic Interstitial Pneumonia 46 0.020
826
c MCL013 Mucolipidosis Iv 46 0.020
827
P OPT048 Opitz-Gbbb Syndrome 46 0.020
828
P CRP007 Carpenter Syndrome 46 0.020
829
SRS007 Sorsby Fundus Dystrophy 46 0.020
830
SPN027 Spinal Stenosis 46 0.020
831
LYS002 Lysosomal Storage Disease 46 0.020
832
ALP014 Alpha-Thalassemia/mental Retardation Syndrome 46 0.020
833
c INF069 Infantile Neuroaxonal Dystrophy 1 46 0.020
834
P HMN013 Hemangiopericytoma 46 0.020
835
c MCP038 Mucopolysaccharidosis Iva 46 0.020
836
P MYP006 Myopia 46 0.020
837
NWC001 Newcastle Disease 45 0.020
838
P PLY041 Polymyositis 45 0.020
839
CHL068 Cholestasis 45 0.020
840
ACR058 Acrofacial Dysostosis 1, Nager Type 45 0.020
841
P HRP009 Herpes Simplex Encephalitis 45 0.020
842
HMH002 Hemihypertrophy 45 0.020
843
END031 Endometrial Stromal Sarcoma 45 0.020
844
P AML002 Amelogenesis Imperfecta 45 0.020
845
CLR003 Clear Cell Adenocarcinoma 45 0.020
846
DSM007 Desmoplastic Small Round Cell Tumor 45 0.020
847
P MSC003 Muscular Atrophy 45 0.020
848
P PLM085 Pulmonary Hemosiderosis 44 0.020
849
LRY018 Laryngeal Squamous Cell Carcinoma 44 0.020
850
ART031 Aortic Coarctation 44 0.020
851
MTH009 Mouth Disease 44 0.020
852
P EPS003 Episodic Ataxia 44 0.020
853
RYN003 Reynolds Syndrome 44 0.020
854
PRC013 Pericarditis 44 0.020
855
P GNT008 Giant Cell Tumor 43 0.020
856
ALV006 Alveolar Capillary Dysplasia 43 0.020
857
P PRT059 Parietal Foramina 1 43 0.020
858
BRN106 Burns 43 0.020
859
PGM001 Pigmented Villonodular Synovitis 43 0.020
860
P FBR031 Febrile Seizures 43 0.020
861
RCT018 Rectal Neoplasm 43 0.020
862
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 43 0.020
863
BRN056 Bronchopulmonary Dysplasia 43 0.020
864
P RNL059 Renal-Hepatic-Pancreatic Dysplasia 43 0.020
865
c PLY026 Polycystic Kidney Disease, Autosomal Dominant 43 0.020
866
NRN001 Neuroendocrine Carcinoma 42 0.020
867
HDC001 Headache 42 0.020
868
GNT031 Genitopatellar Syndrome 42 0.020
869
LMT001 Limited Scleroderma 42 0.020
870
P SCK002 Sick Sinus Syndrome 42 0.020
871
P SHR001 Short Bowel Syndrome 42 0.020
872
PLM019 Pleomorphic Liposarcoma 42 0.020
873
SYR002 Syringocystadenoma Papilliferum 42 0.020
874
INF058 Inflammatory Myofibroblastic Tumor 42 0.020
875
PLN006 Poland Syndrome 42 0.020
876
ICH054 Ichthyosis, X-Linked 41 0.020
877
SPN035 Spindle Cell Sarcoma 41 0.020
878
EPS004 Episodic Ataxia/myokymia Syndrome 41 0.020
879
ANG054 Angina Pectoris 41 0.020
880
PRR016 Pierre Robin Syndrome 41 0.020
881
SMD002 Smed Strudwick Type 41 0.020
882
OPT003 Opiate Dependence 41 0.020
883
EWN002 Ewing's Family of Tumors 41 0.020
884
MST016 Mesothelioma, Somatic 41 0.020
885
HMS001 Hemosiderosis 40 0.020
886
MYC012 Mycetoma 40 0.020
887
HYP063 Hypersplenism 40 0.020
888
SPN032 Spindle Cell Carcinoma 40 0.020
889
P CRN028 Corneal Ulcer 40 0.020
890
ANG018 Angiomyolipoma 40 0.020
891
GNR004 Generalized Anxiety Disorder 40 0.020
892
ICH020 Ichthyosis Prematurity Syndrome 40 0.020
893
P INF049 Infantile Myofibromatosis 40 0.020
894
DFF035 Diffuse Cutaneous Systemic Sclerosis 40 0.020
895
KRT010 Kartagener Syndrome 39 0.020
896
DRS004 Door Syndrome 39 0.020
897
DNT012 Dental Caries 39 0.020
898
HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 39 0.020
899
HYP005 Hypokalemia 39 0.020
900
PRP080 Peripheral Artery Disease 39 0.020
901
CRN025 Corneal Dystrophy 38 0.020
902
c MLG074 Malignant Mesenchymoma 38 0.020
903
TTR016 Tetra-Amelia Syndrome 38 0.020
904
DDF001 Dedifferentiated Liposarcoma 38 0.020
905
LGH004 Light Chain Deposition Disease 38 0.020
906
P BTR001 Botryoid Rhabdomyosarcoma 38 0.020
907
HTR003 Heterotaxy 38 0.020
908
1P3001 1p36 Deletion Syndrome 38 0.020
909
BLR006 Biliary Tract Disease 38 0.020
910
OVR063 Overnutrition 38 0.020
911
URT010 Ureteral Obstruction 38 0.020
912
DST006 Diastolic Heart Failure 38 0.020
913
IMN002 Iminoglycinuria, Digenic 38 0.020
914
DPH019 Diaphanospondylodysostosis 38 0.020
915
NCL006 Nicolaides-Baraitser Syndrome 38 0.020
916
c GM1004 Gm1-Gangliosidosis, Type I 38 0.020
917
DND002 Dendritic Cell Sarcoma 38 0.020
918
LPD004 Lipoid Nephrosis 38 0.020
919
P CHN014 Chondrodysplasia Punctata 38 0.020
920
IDP021 Idiopathic Myopathy 38 0.020
921
PNC034 Pancreas Disease 38 0.020
922
c CNG004 Congenital Epulis 38 0.020
923
CLN045 Colonic Benign Neoplasm 38 0.020
924
P RST002 Restrictive Cardiomyopathy 38 0.020
925
SMT002 Smooth Muscle Tumor 37 0.020
926
KLT001 Klatskin's Tumor 37 0.020
927
SRC027 Sarcoma, Synovial 37 0.020
928
GDS001 Good Syndrome 37 0.020
929
IDP035 Idiopathic Achalasia 37 0.020
930
NRL018 Neural Tube Defects, Folate-Sensitive 37 0.020
931
FCL041 Focal Myositis 37 0.020
932
JVN033 Juvenile Nasopharyngeal Angiofibroma 37 0.020
933
FND002 Fundus Dystrophy 37 0.020
934
HYP143 Hypomyelination and Congenital Cataract 37 0.020
935
PRM003 Premature Ejaculation 37 0.020
936
P LRG017 Large Intestine Cancer 37 0.020
937
OVR044 Ovarian Carcinosarcoma 37 0.020
938
ASP007 Aspiration Pneumonia 37 0.020
939
GLM008 Glomus Tumor 37 0.020
940
FBR003 Fibrous Histiocytoma 37 0.020
941
SPR007 Superior Mesenteric Artery Syndrome 37 0.020
942
ALP016 Alpha-Thalassemia X-Linked Intellectual Disability Syndrome 36 0.020
943
c HMG001 Hemoglobin C Disease 36 0.020
944
NNS006 Non-Suppurative Otitis Media 36 0.020
945
MYX006 Myxoid Leiomyosarcoma 36 0.020
946
c MCR261 Microphthalmia, Syndromic 2 36 0.020
947
ADN027 Adenomyosis 36 0.020
948
P INT063 Intellectual Disability 36 0.020
949
ANG017 Angiolipoma 36 0.020
950
UTR043 Uterine Sarcoma 36 0.020
951
c PLY059 Polycystic Kidney Disease, Adult Type I 36 0.020
952
ADN020 Adenosarcoma 36 0.020
953
NTR041 N-Terminal Acetyltransferase Deficiency 36 0.020
954
RGH009 Right Atrial Isomerism 36 0.020
955
P HYP374 Hypothyroidism, Congenital, Nongoitrous, 1 36 0.020
956
PLM005 Pleomorphic Lipoma 36 0.020
957
P LRG014 Large Cell Neuroendocrine Carcinoma 36 0.020
958
P ISL078 Isolated Ectopia Lentis 36 0.020
959
c ACT068 Acute Cystitis 36 0.020
960
INT276 Interatrial Communication 36 0.020
961
RNL025 Renal Hypoplasia 36 0.020
962
P NRL007 Neurologic Diseases 35 0.020
963
HYP030 Hypoactive Sexual Desire Disorder 35 0.020
964
VCS001 Vici Syndrome 35 0.020
965
EMB007 Embryonal Sarcoma 35 0.020
966
P GLM006 Glomangioma 35 0.020
967
HRT011 Heart Septal Defect 35 0.020
968
LRY029 Laryngomalacia 35 0.020
969
P MRD002 Marden-Walker Syndrome 35 0.020
970
c LPD033 Lipodystrophy, Congenital Generalized, Type 2 35 0.020
971
NCR003 Necrotizing Sialometaplasia 35 0.020
972
CLN006 Colonic Pseudo-Obstruction 35 0.020
973
PLY040 Polymorphous Low-Grade Adenocarcinoma 35 0.020
974
CHN053 Chondromyxoid Fibroma 35 0.020
975
TTL010 Total Anomalous Pulmonary Venous Return 35 0.020
976
MYC005 Myocardial Stunning 35 0.020
977
P DNT009 Dentin Dysplasia 35 0.020
978
GNT020 Giant Congenital Nevus 35 0.020
979
VLL003 Villonodular Synovitis 34 0.020
980
TRN003 Transverse Colon Cancer 34 0.020
981
MTR010 Mature Teratoma 34 0.020
982
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 34 0.020
983
ACT084 Acute Stress Disorder 34 0.020
984
c ART119 Arthrogryposis, Distal, Type 5 34 0.020
985
c ART061 Arthrogryposis, Distal, Type 2a 34 0.020
986
VLV042 Vulvar Vestibulitis Syndrome 34 0.020
987
LNG017 Lung Giant Cell Carcinoma 34 0.020
988
P ATR010 Atrial Heart Septal Defect 34 0.020
989
BWN003 Bowenoid Papulosis 34 0.020
990
c DNT021 Dent Disease 2 34 0.020
991
APP009 Appendix Adenocarcinoma 34 0.020
992
URN009 Urinary System Disease 33 0.020
993
TYL002 Tylosis with Esophageal Cancer 33 0.020
994
CHR174 Christianson Syndrome 33 0.020
995
CNS002 Constrictive Pericarditis 33 0.020
996
MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 33 0.020
997
MCR095 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 33 0.020
998
PLM068 Pulmonary Vein Stenosis 33 0.020
999
P CNG390 Congenital Pulmonary Airway Malformation 33 0.020
1000
BNN003 Bone Inflammation Disease 33 0.020
1001
BLP004 Blepharophimosis 33 0.020
1002
c LRY015 Laryngeal Benign Neoplasm 33 0.020
1003
CTN004 Cutaneous Fibrous Histiocytoma 33 0.020
1004
P TRC005 Tracheal Stenosis 33 0.020
1005
c MCP020 Mucopolysaccharidosis Type Iiic 33 0.020
1006
HMP001 Hemopericardium 33 0.020
1007
c MNT230 Mental Retardation, X-Linked Syndromic 5 32 0.020
1008
c MLG036 Malignant Spiradenoma 32 0.020
1009
c LPD032 Lipodystrophy, Congenital Generalized, Type 1 32 0.020
1010
SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 32 0.020
1011
THY099 Thyroid Hemiagenesis 32 0.020
1012
PHM001 Phimosis 32 0.020
1013
SPN006 Spindle Cell Lipoma 32 0.020
1014
RNL097 Renal Artery Disease 32 0.020
1015
PYG002 Pyogenic Arthritis, Pyoderma Gangrenosum and Acne 32 0.020
1016
SPS004 Spastic Quadriplegia 32 0.020
1017
CRB025 Carbohydrate Metabolic Disorder 32 0.020
1018
JBR033 Joubert Syndrome with Hepatic Defect 32 0.020
1019
NNL001 Non-Langerhans-Cell Histiocytosis 32 0.020
1020
DYS001 Dyskinetic Cerebral Palsy 31 0.020
1021
c MNT109 Mental Retardation, X-Linked, Syndromic 15 31 0.020
1022
MCR019 Microglandular Adenosis 31 0.020
1023
ACR015 Acrocephalosyndactylia 31 0.020
1024
c CNG023 Congenital Fibrosarcoma 31 0.020
1025
MCR001 Microcystic Meningioma 31 0.020
1026
EHL060 Ehlers-Danlos Syndrome Due to Tenascin X Deficiency 31 0.020
1027
P ADN017 Adenofibroma 31 0.020
1028
SPC010 Speech and Communication Disorders 31 0.020
1029
HYP139 Hypotrichosis-Lymphedema-Telangiectasia Syndrome 31 0.020
1030
TRN051 Translocation Renal Cell Carcinoma 31 0.020
1031
c MCP023 Mucopolysaccharidosis Type Ivb 31 0.020
1032
MCP033 Mucopolysaccharidoses 31 0.020
1033
P HNN005 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 31 0.020
1034
TND005 Tendinitis 31 0.020
1035
SKL007 Skeletal Muscle Regeneration 31 0.020
1036
c 46X001 46 Xy Gonadal Dysgenesis 30 0.020
1037
FLT009 Folate Malabsorption, Hereditary 30 0.020
1038
TNS013 Tonsil Squamous Cell Carcinoma 30 0.020
1039
CTN012 Cutaneous Leiomyosarcoma 30 0.020
1040
PRD011 Proud Syndrome 30 0.020
1041
VLL001 Villous Adenocarcinoma 30 0.020
1042
SWY001 Swayback 30 0.020
1043
P CYS007 Cystic Nephroma 30 0.020
1044
DND005 Dandy-Walker Complex 30 0.020
1045
DXT002 Dextrocardia with Situs Inversus 30 0.020
1046
c CHR096 Chronic Pulmonary Heart Disease 30 0.020
1047
GRD006 Geroderma Osteodysplastica 30 0.020
1048
NNT019 Neonatal Hypothyroidism 30 0.020
1049
RDT001 Radiation Cystitis 30 0.020
1050
P SCH017 Schindler Disease 30 0.020
1051
TRC035 Tracheal Agenesis 30 0.020
1052
FMR003 Femoral Neuropathy 30 0.020
1053
BRL011 Bare Lymphocyte Syndrome, Type I 30 0.020
1054
TTH008 Tooth Resorption 30 0.020
1055
PTN008 Patent Arterial Duct 29 0.020
1056
c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 29 0.020
1057
c HRD009 Hereditary Wilms' Tumor 29 0.020
1058
RTR007 Retroperitoneal Leiomyosarcoma 29 0.020
1059
46X033 46,xx Ovotesticular Disorder of Sex Development 29 0.020
1060
BNG041 Benign Metastasizing Leiomyoma 29 0.020
1061
46X020 46xy Sex Reversal 3 29 0.020
1062
CHR413 Chronic Myocardial Ischemia 29 0.020
1063